Precision Medicine Flashcards

1
Q

what are two genetic variants that affect drug action?

A

single nucleotide polymorphisms (SNPs)

sets of closely linked SNPs (haplotypes)

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2
Q

what is a single nucleotide polymorphism genetic variant?

A

single-nucleotide substitutions of one base for another

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3
Q

what are haplotypes genetic variant?

A

group of a cluster of SNPs within an organism inherited from a single parent

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4
Q

how many SNPs are in the human genome?

A

10 million

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5
Q

where are SNP variations commonly found?

A

between genes

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6
Q

how do SNPs act as biological markers?

A

help locate genes associated with disease

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7
Q

T/F SNPs can predispose people to disease or influence their response to a drug

A

True

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8
Q

what do non-coding SNPs do?

A

change the amount of protein produced

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9
Q

what do coding SNPs do?

A

changes amino acid sequence

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10
Q

if SNPs are outside of the specific gene, can they effect protein production/function?

A

No

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11
Q

define penetrance

A

the proportion of people with a particular gene exhibiting signs and symptoms of a genetic disorder

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12
Q

which of these factors influence drug response?

a. gender
b. height
c. age
d. body mass
e. congenital conditions
f. diet
g. presence of other drugs
h. disease
i. fluid intake
j. exposure to certain chemicals or toxins
k. tobacco/alcohol
l. genetic factors
m. DNA synthesis

A

a,c,d,f,g,h,j,k,l

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13
Q

T/F pharmacogenetic testing prior to drug us is common before administration of drugs

A

False, limited to specialized drugs such as chemotherapy

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14
Q

define genetics

A

the study of single genes and its effects

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15
Q

define genome

A

all the genetic material of an organism

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16
Q

define genomics

A

the study of all genes in the genome

17
Q

define pharmacogenomics

A

study of how genes affect a person’s response to drugs to administer safe medications and doses specific to the patients genetics

18
Q

define precision medicine

A

an approach for disease treatment and prevention that accounts for variability in genes, environment, and lifestyle of each patient

19
Q

why is precision medicine the future of medicine?

A

allow us to predict more accurately which treatment and prevention strategies for a particular disease will work in which groups of people

20
Q

define optimal dose range for a drug

A

efficacy is greatest and toxicity is lowest

21
Q

define transcriptome

A

all of the expresses RNA molecules in a cell at a given time

provides info about how highly various genes are expressed

22
Q

define proteome

A

shape-shifting proteins

23
Q

define epigenome

A

study of changes in regulation of gene activity and expression that are not dependent on gene sequence